Erythrocytosis, Familial, 3
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Erythrocytosis, Familial, 3
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.
|
17579185 |
2007 |
Erythrocytosis, Familial, 3
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Erythrocytosis, Familial, 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.
|
17579185 |
2007 |
Erythrocytosis, Familial, 3
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis.
|
16407130 |
2006 |
Paraganglioma
|
0.380 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.
|
17579185 |
2007 |
Paraganglioma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia.
|
25263965 |
2015 |
Paraganglioma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
The functions of MYC-associated factor X (MAX) and prolyl hydroxylase 2 (PHD2) mutations in the contribution to the pathogenesis of paragangliomas still remain unclear.
|
31307198 |
2019 |
Paraganglioma
|
0.380 |
Biomarker
|
disease |
BEFREE |
We also show that inactivation of the principal HIF prolyl hydroxylase PHD2 within the Type I cell lineage is sufficient to cause multilineage expansion of the carotid body, with characteristics resembling paragangliomas.
|
29917232 |
2018 |
Paraganglioma
|
0.380 |
Biomarker
|
disease |
BEFREE |
Previously, mutations in the SDHA/B/C/D, SDHAF2, VHL, FH, PHD1, and PHD2 genes have been associated with HIF activation and the development of pseudohypoxic (cluster-1) PGLs.
|
27659016 |
2016 |
Paraganglioma
|
0.380 |
Biomarker
|
disease |
BEFREE |
The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a direct abrogation of hypoxia inducible factor (HIF) degradation, resulting in a pseudo-hypoxic state implicated in PCC/PGL development.
|
23418310 |
2013 |
Paraganglioma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
We describe a patient with erythrocytosis and recurrent paraganglioma who carries a newly discovered PHD2 mutation.
|
19092153 |
2008 |
Paraganglioma
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
These PHD2 variants were functionally analyzed and compared with the PHD2 mutant previously identified in a patient with polycythemia and paraganglioma.
|
21933857 |
2012 |
Paraganglioma
|
0.380 |
Biomarker
|
disease |
BEFREE |
More rarely, two other genes may predispose to pheochromocytoma/paraganglioma development: KIF1Bbeta and PHD2.
|
21115163 |
2010 |
Polycythemia
|
0.360 |
GeneticVariation
|
disease |
LHGDN |
Biochemical characterization of human prolyl hydroxylase domain protein 2 variants associated with erythrocytosis.
|
18834144 |
2008 |
Polycythemia
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
No germline mutations were initially detected in the SDHB, SDHC, SDHD, VHL, and PHD2 genes, known to be associated with polycythemia.
|
23539726 |
2013 |
Polycythemia
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a bioinformatics investigation of the pathological effect of twelve PHD2 mutations related to polycythemia insurgence.
|
26754054 |
2016 |
Polycythemia
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia.
|
25263965 |
2015 |
Polycythemia
|
0.360 |
GeneticVariation
|
disease |
BEFREE |
These PHD2 variants were functionally analyzed and compared with the PHD2 mutant previously identified in a patient with polycythemia and paraganglioma.
|
21933857 |
2012 |
Polycythemia
|
0.360 |
Biomarker
|
disease |
BEFREE |
Our results suggest that PHD2 is a direct target of miR-17/20a and that miR-17~92 contributes to PASMC proliferation and polycythemia by suppression of PHD2 and induction of HIF1α.
|
27919930 |
2016 |
Polycythemia
|
0.360 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.
|
17579185 |
2007 |
Adrenal Gland Pheochromocytoma
|
0.350 |
Biomarker
|
disease |
BEFREE |
The dysfunction of genes involved in the cellular response to hypoxia, such as VHL, EGL nine homolog 1, and the succinate dehydrogenase (SDH) genes, leads to a direct abrogation of hypoxia inducible factor (HIF) degradation, resulting in a pseudo-hypoxic state implicated in PCC/PGL development.
|
23418310 |
2013 |
Adrenal Gland Pheochromocytoma
|
0.350 |
Biomarker
|
disease |
BEFREE |
More rarely, two other genes may predispose to pheochromocytoma/paraganglioma development: KIF1Bbeta and PHD2.
|
21115163 |
2010 |
Adrenal Gland Pheochromocytoma
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
We undertook mutation analysis of PHD1, PHD2 and PHD3 in two cohorts of patients with features of inherited phaeochromocytoma (n=82) and inherited RCC (n=64) and no evidence of germline mutations in known susceptibility genes.
|
20959442 |
2011 |
Adrenal Gland Pheochromocytoma
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia.
|
25263965 |
2015 |